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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 9-34657331-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34657331&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 34657331,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001142784.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL11RA",
"gene_hgnc_id": 5967,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Gln159*",
"transcript": "NM_001142784.3",
"protein_id": "NP_001136256.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 422,
"cds_start": 475,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000441545.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142784.3"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL11RA",
"gene_hgnc_id": 5967,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Gln159*",
"transcript": "ENST00000441545.7",
"protein_id": "ENSP00000394391.3",
"transcript_support_level": 5,
"aa_start": 159,
"aa_end": null,
"aa_length": 422,
"cds_start": 475,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001142784.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441545.7"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL11RA",
"gene_hgnc_id": 5967,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Gln159*",
"transcript": "ENST00000318041.13",
"protein_id": "ENSP00000326500.8",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 422,
"cds_start": 475,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318041.13"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL11RA",
"gene_hgnc_id": 5967,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Gln159*",
"transcript": "ENST00000602473.5",
"protein_id": "ENSP00000473647.1",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 390,
"cds_start": 475,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602473.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL11RA",
"gene_hgnc_id": 5967,
"hgvs_c": "c.640C>T",
"hgvs_p": "p.Gln214*",
"transcript": "ENST00000957059.1",
"protein_id": "ENSP00000627118.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 477,
"cds_start": 640,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957059.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL11RA",
"gene_hgnc_id": 5967,
"hgvs_c": "c.487C>T",
"hgvs_p": "p.Gln163*",
"transcript": "ENST00000957054.1",
"protein_id": "ENSP00000627113.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 430,
"cds_start": 487,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957054.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL11RA",
"gene_hgnc_id": 5967,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Gln164*",
"transcript": "ENST00000902566.1",
"protein_id": "ENSP00000572625.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 427,
"cds_start": 490,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902566.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL11RA",
"gene_hgnc_id": 5967,
"hgvs_c": "c.490C>T",
"hgvs_p": "p.Gln164*",
"transcript": "ENST00000957061.1",
"protein_id": "ENSP00000627120.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 427,
"cds_start": 490,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957061.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL11RA",
"gene_hgnc_id": 5967,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Gln159*",
"transcript": "ENST00000555003.6",
"protein_id": "ENSP00000450565.2",
"transcript_support_level": 2,
"aa_start": 159,
"aa_end": null,
"aa_length": 426,
"cds_start": 475,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555003.6"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL11RA",
"gene_hgnc_id": 5967,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Gln159*",
"transcript": "ENST00000902558.1",
"protein_id": "ENSP00000572617.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 426,
"cds_start": 475,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902558.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL11RA",
"gene_hgnc_id": 5967,
"hgvs_c": "c.487C>T",
"hgvs_p": "p.Gln163*",
"transcript": "ENST00000902560.1",
"protein_id": "ENSP00000572619.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 426,
"cds_start": 487,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902560.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL11RA",
"gene_hgnc_id": 5967,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Gln159*",
"transcript": "ENST00000902561.1",
"protein_id": "ENSP00000572620.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 426,
"cds_start": 475,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902561.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL11RA",
"gene_hgnc_id": 5967,
"hgvs_c": "c.487C>T",
"hgvs_p": "p.Gln163*",
"transcript": "ENST00000902569.1",
"protein_id": "ENSP00000572628.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 426,
"cds_start": 487,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902569.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL11RA",
"gene_hgnc_id": 5967,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Gln159*",
"transcript": "ENST00000902571.1",
"protein_id": "ENSP00000572629.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 426,
"cds_start": 475,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902571.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL11RA",
"gene_hgnc_id": 5967,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Gln159*",
"transcript": "ENST00000957058.1",
"protein_id": "ENSP00000627117.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 426,
"cds_start": 475,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957058.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL11RA",
"gene_hgnc_id": 5967,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Gln159*",
"transcript": "ENST00000957065.1",
"protein_id": "ENSP00000627124.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 426,
"cds_start": 475,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957065.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL11RA",
"gene_hgnc_id": 5967,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Gln159*",
"transcript": "ENST00000957051.1",
"protein_id": "ENSP00000627110.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 425,
"cds_start": 475,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957051.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL11RA",
"gene_hgnc_id": 5967,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Gln159*",
"transcript": "ENST00000957053.1",
"protein_id": "ENSP00000627112.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 424,
"cds_start": 475,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957053.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL11RA",
"gene_hgnc_id": 5967,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Gln159*",
"transcript": "ENST00000555981.6",
"protein_id": "ENSP00000450640.2",
"transcript_support_level": 2,
"aa_start": 159,
"aa_end": null,
"aa_length": 422,
"cds_start": 475,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555981.6"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL11RA",
"gene_hgnc_id": 5967,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Gln159*",
"transcript": "ENST00000690286.1",
"protein_id": "ENSP00000509204.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 422,
"cds_start": 475,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690286.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL11RA",
"gene_hgnc_id": 5967,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Gln159*",
"transcript": "ENST00000926823.1",
"protein_id": "ENSP00000596882.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 422,
"cds_start": 475,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926823.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL11RA",
"gene_hgnc_id": 5967,
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Gln159*",
"transcript": "ENST00000957056.1",
"protein_id": "ENSP00000627115.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 422,
"cds_start": 475,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957056.1"
},
{
"aa_ref": "Q",
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"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4399999976158142,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.44,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.614,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001142784.3",
"gene_symbol": "IL11RA",
"hgnc_id": 5967,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.475C>T",
"hgvs_p": "p.Gln159*"
},
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000691183.1",
"gene_symbol": "ENSG00000258728",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*2860C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Craniosynostosis and dental anomalies",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Craniosynostosis and dental anomalies",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}